FAMILIAL HYPERCHOLESTEROLAEMIA - Rare Forms of Familial Hypercholesterolaemia
Head :
Boileau Catherine, U781
Last update : 06/27/2014 | Version : 1 | ID : 60131
| General | |
| Identification | |
| Detailed name | Rare Forms of Familial Hypercholesterolaemia |
| Sign or acronym | FAMILIAL HYPERCHOLESTEROLAEMIA |
| CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation | Accord CNIL : 28/03/2006 |
| General Aspects | |
| Medical area |
Cardiology General practice |
| Health determinants |
Genetic |
| Others (details) | Familial hypercholesterolaemia |
| Keywords | lipid profile, cardiovascular complications, severity, Health episodes, response to treatment |
| Scientific investigator(s) (Contact) | |
| Name of the director | Boileau |
| Surname | Catherine |
| Address | 75015 PARIS |
| catherine.boileau@inserm.fr | |
| Unit | U781 |
| Organization | INSERM |
| Collaborations | |
| Funding | |
| Funding status |
Public |
| Details | PHRC NATIONAL |
| Governance of the database | |
| Sponsor(s) or organisation(s) responsible | INSERM |
| Organisation status |
Public |
| Additional contact | |
| Main features | |
| Type of database | |
| Type of database |
Study databases |
| Study databases (details) |
Cohort study |
| Database recruitment is carried out by an intermediary |
A selection of health institutions and services |
| Database recruitment is carried out as part of an interventional study |
No |
| Additional information regarding sample selection. | Inclusion method: prospective. Details concerning this number: 1,000 applicants 250 multiplex families (at least 15 subjects per family) |
| Database objective | |
| Main objective | General objective: To assess and compare the morbidity and mortality of each form of familial hypercholesterolaemia. Secondary objective: To develop the most effective intervention methods possible and establish better targeted treatment tools. |
| Inclusion criteria | Autosomal dominant hypercholesterolaemia |
| Population type | |
| Age |
Adulthood (19 to 24 years) Adulthood (25 to 44 years) Adulthood (45 to 64 years) |
| Population covered |
Sick population |
| Gender |
Male Woman |
| Geography area |
National |
| Detail of the geography area | France |
| Data collection | |
| Dates | |
| Date of first collection (YYYY or MM/YYYY) | 03/1992 |
| Size of the database | |
| Size of the database (number of individuals) |
[500-1000[ individuals |
| Details of the number of individuals | 1000 |
| Data | |
| Database activity |
Data collection completed |
| Type of data collected |
Clinical data Declarative data Biological data |
| Clinical data (detail) |
Direct physical measures Medical registration |
| Declarative data (detail) |
Face to face interview |
| Biological data (detail) | Type of samples taken: blood, lipid profile, DNA and establishment of lymphoblastoid cell lines |
| Presence of a biobank |
Yes |
| Contents of biobank |
Cell lines DNA |
| Details of biobank content | DNA bank, lymphoblastoid lines |
| Health parameters studied |
Health event/morbidity Health event/mortality |
| Procedures | |
| Data collection method | Interview: paper questionnaire (manual input) Cinical examinations: handwritten (manual input) Biological analysis: handwritten (manual input) |
| Participant monitoring |
Yes |
| Details on monitoring of participants | (Indefinite duration) |
| Links to administrative sources |
No |
| Promotion and access | |
| Promotion | |
| Link to the document | http://www.ncbi.nlm.nih.gov/pubmed/25052769 |
| Access | |
| Terms of data access (charter for data provision, format of data, availability delay) | Data may not be used by academic teams Data may not be used by industrial teams |
| Access to aggregated data |
Access on specific project only |
| Access to individual data |
No access |
